Diagnosis and treatments of Prader-Willi syndrome: a review of current consensuses

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Abstract


We analyzed international consensuses of experts and clinical recommendations on diagnosis and treatment of Prader-Willi syndrome (PWS): PWS consensus diagnostic criteria (1993); US PWS Association (PWSA-USA) consensus statements on evaluating of breathing abnormalities (2007), osteoporosis (2008), growth hormone treatment in PWS (2000 and 2009); Endocrine society clinical practice guideline on Prevention and treatment of pediatric obesity (2008); the Second Expert Meeting of the Comprehensive Care of Patients with PWS Consensus published as Recommendations for the diagnosis and management of PWS (2008). Historical analysis and comparison of recommendations are presented in this review article. Absence of Russian clinical practice guidelines on PWS patients management makes necessary the detailed study of listed documents.

University Children’s Clinical Hospital of I.M. Sechenov's First Moscow State Medical University

Author for correspondence.
Email: dr.vitebskaya@gmail.com

Russian Federation

PhD, Head of Paediatric Endocrinology Department

  1. Driscoll DJ, Waters MF, Williams CA, Zori RT, Glenn CC, Avidano KM, et al. A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics 1992;13(4):917-924. Available from: http://www.nlm.nih.gov/medlineplus/movementdisorders.html PubMed PMID: 1505981. doi: 10.1016/0888-7543(92)90001-9.
  2. Nicholls RD, Knepper JL. Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet 2001;2:153-175. Available from: http://www.scholaruniverse.com/ncbi-linkout?id=11701647 PubMed PMID: 11701647. doi: 10.1146/annurev.genom.2.1.153.
  3. Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M. Recommendations for the Diagnosis and Management of Prader-Willi Syndrome. The Journal of Clinical Endocrinology & Metabolism 2008;93(11):4183-4197. Available from: http://press.endocrine.org/doi/abs/10.1210/jc.2008-0649 doi: 10.1210/jc.2008-0649.
  4. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993;91(2):398-402. Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 8424017.
  5. Recommendations for evaluating of breathing abnormalities associated with sleep in Prader-Willi syndrome. PWSA (USA) Clinical Advisory Board consensus statement. The Gathered View (published bimonthly by PWSA) 2007.
  6. Osteoporosis evaluation and therapy in Prader-Willi syndrome. Consensus statement of the PWSA (USA) Clinical Advisory Board. The Gathered View (published bimonthly by PWSA) 2008.
  7. Growth hormone treatment and Prader-Willi syndrome. PWSA (USA) Clinical Advisory Board consensus statement. The Gathered View (published bimonthly by PWSA) 2009.
  8. Lee PDK, Allen DB, Angulo MA, Cappa M, Carrel AL. Consensus statement – Prader-Willi Syndrome: GH/insulin-like growth factor axis deficiency and GHH treatment. The Endocrinologist 2000;10(4).
  9. August GP, Caprio S, Fennoy I, Freemark M, Kaufman FR, Lustig RH, et al. Prevention and treatment of pediatric obesity: an endocrine society clinical practice guideline based on expert opinion. J Clin Endocrinol Metab 2008;93(12):4576-4599. Available from: http://www.scholaruniverse.com/ncbi-linkout?id=18782869 PubMed PMID: 18782869. doi: 10.1210/jc.2007-2458.
  10. Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, et al. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet 1999;65(2):370-386. Available from: http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62054-0 PubMed PMID: 10417280. doi: 10.1086/302510.
  11. Chai J, Locke DP, Greally JM, Knoll JHM, Ohta T, Dunai J, et al. Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. Am J Hum Genet 2003;73(4):898-925. Available from: http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)63637-4 PubMed PMID: 14508708. doi: 10.1086/378816.
  12. Butler MG. High resolution chromosome analysis and fluorescence in situ hybridization in patients referred for Prader-Willi or Angelman syndrome. Am. J. Med. Genet 1995;56(4):420-422. Available from: http://doi.wiley.com/10.1002/ajmg.1320560414 doi: 10.1002/ajmg.1320560414.
  13. Procter M, Chou LS, Tang W, et al. Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification. Clin Chem. 2006 Jul;52(7):1276-83. Epub 2006 May 11.
  14. Whittington J, Holland A, Webb T, Butler J, Clarke D, Boer H. Cognitive abilities and genotype in a population-based sample of people with Prader-Willi syndrome. J Intellect Disabil Res 2004;48(Pt 2):172-187. Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 14723659.
  15. Whittington JE, Butler JV, Holland AJ. Pre-, peri- and postnatal complications in Prader–Willi syndrome in a UK sample. Early Human Development 2008;84(5):331-336. Available from: http://linkinghub.elsevier.com/retrieve/pii/S0378378207001569 doi: 10.1016/j.earlhumdev.2007.08.007.
  16. Glenn CC, Deng G, Michaelis RC, Tarleton J, Phelan MC, Surh L, et al. DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting. Prenat Diagn 2000;20(4):300-306. Available from: http://www.scholaruniverse.com/ncbi-linkout?id=10740202 PubMed PMID: 10740202. doi: 10.1002/(SICI)1097-0223(200004)20:43.0.CO;2-A.
  17. Whittington J. Relationship between clinical and genetic diagnosis of Prader-Willi syndrome. Journal of Medical Genetics 2002;39(12):926-932. Available from: http://jmg.bmj.com/cgi/doi/10.1136/jmg.39.12.926 doi: 10.1136/jmg.39.12.926.
  18. Defloor T, Borsel JV, Curfs L. Articulation in Prader–Willi syndrome. Journal of Communication Disorders 2002;35(3):261-282. Available from: http://linkinghub.elsevier.com/retrieve/pii/S0021992402000576 doi: 10.1016/S0021-9924(02)00057-6.
  19. Miller JL, Lynn CH, Driscoll DC, Goldstone AP, Gold J, Kimonis V, et al. Nutritional phases in Prader-Willi syndrome. Am. J. Med. Genet 2011;155(5):1040-1049. Available from: http://doi.wiley.com/10.1002/ajmg.a.33951 doi: 10.1002/ajmg.a.33951.
  20. Scheimann AO, Butler MG, Gourash L, Cuffari C, Klish W. Critical analysis of bariatric procedures in Prader-Willi syndrome. J Pediatr Gastroenterol Nutr 2008;46(1):80-83. Available from: http://www.scholaruniverse.com/ncbi-linkout?id=18162838 PubMed PMID: 18162838. doi: 10.1097/01.mpg.0000304458.30294.31.
  21. Butler JV, Whittington JE, Holland AJ, Boer H, Clarke D, Webb T. Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study. Dev Med Child Neurol 2002;44(4):248-255. Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 11995893. doi: 10.1017/S001216220100202X.
  22. Haqq AM, Stadler DD, Jackson RH, Rosenfeld RG, Purnell JQ, LaFranchi SH. Effects of growth hormone on pulmonary function, sleep quality, behavior, cognition, growth velocity, body composition, and resting energy expenditure in Prader-Willi syndrome. J Clin Endocrinol Metab 2003;88(5):2206-2212. Available from: http://www.scholaruniverse.com/ncbi-linkout?id=12727976 PubMed PMID: 12727976. doi: 10.1210/jc.2002-021536.
  23. Silverthorn KH, Hornak JE. Beneficial effects of exercise on aerobic capacity and body composition in adults with Prader-Willi syndrome.. Am J Ment Retard 1993;97(6):654-658. Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 8517945.
  24. Vogels A, Fryns JP. Age at diagnosis, body mass index and physical morbidity in children and adults with the Prader-Willi syndrome. Genet Couns 2004;15(4):397-404. Available from: http://www.diseaseinfosearch.org/result/4492 PubMed PMID: 15658614.
  25. Tauber M, Diene G, Molinas C, Hébert M. Review of 64 cases of death in children with Prader-Willi syndrome (PWS). Am J Med Genet A 2008;146(7):881-887. Available from: http://www.scholaruniverse.com/ncbi-linkout?id=18324685 PubMed PMID: 18324685. doi: 10.1002/ajmg.a.32131.
  26. Heinemann J. Wound healing with Prader-Willi syndrome – How many calories?. The Gathered View (published bimonthly by PWSA) 2010.
  27. Hoffman CJ, Aultman D, Pipes P. A nutrition survey of and recommendations for individuals with Prader-Willi syndrome who live in group homes. J Am Diet Assoc 1992;92(7):823-830. Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 1624651.
  28. Cacciari E, Cicognani A, Pirazzoli P, Tassoni P, Zappulla F, Salardi S, et al. Relationships among the secretion of ACTH, GH, and cortisol during the insulin-induced hypoglycemia test in the normal and obese child. J Clin Endocrinol Metab 1975;40(5):802-806. Available from: http://www.diseaseinfosearch.org/result/9680 PubMed PMID: 165219. doi: 10.1210/jcem-40-5-802.
  29. Eiholzer U, l'Allemand D, Rousson V, Schlumpf M, Gasser T, Girard J, et al. Hypothalamic and gonadal components of hypogonadism in boys with Prader-Labhart- Willi syndrome. J Clin Endocrinol Metab 2005;91(3):892-898. Available from: http://toxnet.nlm.nih.gov/cgi-bin/sis/search/r?dbs+hsdb:@term+@rn+9002-68-0 PubMed PMID: 16352691. doi: 10.1210/jc.2005-0902.
  30. Radetti G, Bozzola M, Pasquino B, Paganini C, Aglialoro A, Livieri C, et al. Growth hormone bioactivity, insulin-like growth factors (IGFs), and IGF binding proteins in obese children. Metabolism 1998;47(12):1490-1493. Available from: http://linkinghub.elsevier.com/retrieve/pii/S0026049598900750 doi: 10.1016/S0026-0495(98)90075-0.
  31. Grugni G, Guzzaloni G, Moro D, Bettio D, De Medici C, Morabito F. Reduced growth hormone (GH) responsiveness to combined GH-releasing hormone and pyridostigmine administration in the Prader-Willi syndrome. Clin Endocrinol (Oxf) 1998;48(6):769-775. Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 9713567. doi: 10.1046/j.1365-2265.1998.00435.x.
  32. Burman P, Ritzén EM, Lindgren AC. Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH. Endocr Rev 2001;22(6):787-799. Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 11739333. doi: 10.1210/edrv.22.6.0447.
  33. Carrel AL, Myers SE, Whitman BY, Allen DB. Benefits of long-term GH therapy in Prader-Willi syndrome: a 4-year study. J Clin Endocrinol Metab 2002;87(4):1581-1585. Available from: http://www.scholaruniverse.com/ncbi-linkout?id=11932286 PubMed PMID: 11932286. doi: 10.1210/jcem.87.4.8414.
  34. Hauffa BP, Schlippe G, Roos M, Gillessen-Kaesbach G, Gasser T. Spontaneous growth in German children and adolescents with genetically confirmed Prader-Willi syndrome. Acta Paediatr 2000;89(11):1302-1311. Available from: http://www.diseaseinfosearch.org/result/3027 PubMed PMID: 11106040. doi: 10.1111/j.1651-2227.2000.tb00755.x.
  35. Angulo MA, Castro-Magana M, Lamerson M, Arguello R, Accacha S, Khan A. Final adult height in children with Prader–Willi syndrome with and without human growth hormone treatment. Am. J. Med. Genet 2007;143A(13):1456-1461. Available from: http://doi.wiley.com/10.1002/ajmg.a.31824 doi: 10.1002/ajmg.a.31824.
  36. Tauber M. Effects of growth hormone treatment in children presenting with Prader-Willi syndrome: the KIGS experience. In: Growth hormone therapy in Pediatrics—20 years of KIGS. Ranke MB, Price DA, Reiter EO, editors. 2007. p. 377-387.
  37. Carrel AL, Moerchen V, Myers SE, Bekx, M. Tracy , Whitman BY, Allen DB. Growth hormone improves mobility and body composition in infants and toddlers with Prader-Willi syndrome. The Journal of Pediatrics 2004;145(6):744-749. Available from: http://linkinghub.elsevier.com/retrieve/pii/S0022347604007152 doi: 10.1016/j.jpeds.2004.08.002.
  38. Mogul HR, Lee PDK, Whitman BY, Zipf WB, Frey M, Myers S, et al. Growth Hormone Treatment of Adults with Prader-Willi Syndrome and Growth Hormone Deficiency Improves Lean Body Mass, Fractional Body Fat, and Serum Triiodothyronine without Glucose Impairment: Results from the United States Multicenter Trial. The Journal of Clinical Endocrinology & Metabolism 2008;93(4):1238-1245. Available from: http://press.endocrine.org/doi/abs/10.1210/jc.2007-2212 doi: 10.1210/jc.2007-2212.
  39. Partsch CJ, Lämmer C, Gillessen-Kaesbach G, Pankau R. Adult patients with Prader-Willi syndrome: clinical characteristics, life circumstances and growth hormone secretion. Growth Horm IGF Res 2000;10 Suppl B. Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 10984259.
  40. Butler MG, Theodoro M, Skouse JD. Thyroid function studies in Prader-Willi syndrome. Am J Med Genet A 2007;143(5):488-492. Available from: http://www.scholaruniverse.com/ncbi-linkout?id=17304546 PubMed PMID: 17304546. doi: 10.1002/ajmg.a.31683.
  41. Festen DAM, de Weerd AW, van den Bossche RAS, Joosten K, Hoeve H, Hokken-Koelega ACS. Sleep-related breathing disorders in prepubertal children with Prader-Willi syndrome and effects of growth hormone treatment. J Clin Endocrinol Metab 2006;91(12):4911-4915. Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 17003096. doi: 10.1210/jc.2006-0765.
  42. Lindgren A, Hellstrom L, Ritzen E, Milerad J. Growth hormone treatment increases CO 2 response, ventilation and central inspiratory drive in children with Prader-Willi syndrome. European Journal of Pediatrics 1999;158(11):936-940. Available from: http://link.springer.com/10.1007/s004310051246 PubMed PMID: 10541953. doi: 10.1007/s004310051246.
  43. Miller J, Silverstein J, Shuster J, Driscoll DJ, Wagner M. Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome. J Clin Endocrinol Metab 2005;91(2):413-417. Available from: http://www.scholaruniverse.com/ncbi-linkout?id=16317059 PubMed PMID: 16317059. doi: 10.1210/jc.2005-1279.
  44. Myers SE, Carrel AL, Whitman BY, Allen DB. Sustained benefit after 2 years of growth hormone on body composition, fat utilization, physical strength and agility, and growth in Prader-Willi syndrome. J Pediatr 2000;137(1):42-49. Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 10891820. doi: 10.1067/mpd.2000.105369.
  45. de Lind van Wijngaarden, F.A. (Roderick) , de Klerk LWL, Festen DAM, Duivenvoorden HJ, Otten BJ, Hokken-Koelega ACS. Randomized controlled trial to investigate the effects of growth hormone treatment on scoliosis in children with Prader-Willi syndrome. J Clin Endocrinol Metab 2009;94(4):1274-1280. Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 19158197. doi: 10.1210/jc.2008-1844.
  46. Rees D, Jones MW, Owen R, Dorgan JC. Scoliosis surgery in the Prader-Willi syndrome. J Bone Joint Surg Br 1989;71(4):685-688. Available from: http://bjj.boneandjoint.org.uk/cgi/pmidlookup?view=long&pmid=2768322 PubMed PMID: 2768322.
  47. Eiholzer U, Stutz K, Weinmann C, Torresani T, Molinari L, Prader A. Low insulin, IGF-I and IGFBP-3 levels in children with Prader-Labhart-Willi syndrome. European Journal of Pediatrics 1998;157(11):890-893. Available from: http://link.springer.com/10.1007/s004310050961 doi: 10.1007/s004310050961.
  48. Crinò A, Schiaffini R, Ciampalini P, Spera S, Beccaria L, Benzi F, et al. Hypogonadism and pubertal development in Prader-Willi syndrome. Eur J Pediatr 2003;162(5):327-333. Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 12692714. doi: 10.1007/s00431-002-1132-4.
  49. Fillion M, Deal CL, Van Vliet G. Normal minipuberty of infancy in boys with Prader-Willi syndrome. J Pediatr 2006;149(6):874-876. Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 17137911. doi: 10.1016/j.jpeds.2006.08.077.
  50. Schmidt H, Schwarz HP. Premature adrenarche, increased growth velocity and accelerated bone age in male patients with Prader-Labhart-Willi syndrome. Eur J Pediatr 2001;160(1):69-70. Available from: http://www.nlm.nih.gov/medlineplus/praderwillisyndrome.html PubMed PMID: 11195029.
  51. Emerick JE, Vogt KS. Endocrine manifestations and management of Prader-Willi syndrome. Int J Pediatr Endocrinol 2013;2013(1):14. Available from: http://www.ijpeonline.com/content/2013/1/14 doi: 10.1186/1687-9856-2013-14.
  52. Stevenson DA, Anaya TM, Clayton-Smith J, Hall BD, Van Allen MI, Zori RT, et al. Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals. Am J Med Genet A 2004;124A(2):158-164. Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 14699614. doi: 10.1002/ajmg.a.20370.
  53. de Lind van Wijngaarden, F.A. (Roderick) de , Otten BJ, Festen DAM, Joosten KFM, de Jong FH, Sweep FCGJ, et al. High Prevalence of Central Adrenal Insufficiency in Patients with Prader-Willi Syndrome. The Journal of Clinical Endocrinology & Metabolism 2008;93(5):1649-1654. Available from: http://press.endocrine.org/doi/abs/10.1210/jc.2007-2294 doi: 10.1210/jc.2007-2294.
  54. Grugni G, Beccaria L, Corrias A, Crinò A, Cappa M, De Medici C, et al. Central adrenal insufficiency in young adults with Prader-Willi syndrome. Clin Endocrinol (Oxf) 2013;79(3):371-378. Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 23311724. doi: 10.1111/cen.12150.
  55. Corrias A, Grugni G, Crinò A, Di Candia S, Chiabotto P, Cogliardi A, et al. Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome. Clin Endocrinol (Oxf) 2012;76(6):843-850. Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 22150958. doi: 10.1111/j.1365-2265.2011.04313.x.
  56. Connell NA, Paterson WF, Wallace, A. Michael , Donaldson MDC. Adrenal function and mortality in children and adolescents with Prader-Willi syndrome attending a single centre from 1991-2009. Clinical Endocrinology;73(5):686-688. Available from: http://doi.wiley.com/10.1111/j.1365-2265.2010.03853.x doi: 10.1111/j.1365-2265.2010.03853.x.
  57. Nyunt O, Cotterill AM, Archbold SM, Wu JY, Leong GM, Verge CF, et al. Normal cortisol response on low-dose synacthen (1 microg) test in children with Prader Willi syndrome. J Clin Endocrinol Metab 2010;95(12). Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 20810574. doi: 10.1210/jc.2010-0647.
  58. Farholt S, Sode-Carlsen R, Christiansen JS, Østergaard JR, Høybye C. Normal cortisol response to high-dose synacthen and insulin tolerance test in children and adults with Prader-Willi syndrome. J Clin Endocrinol Metab 2010;96(1). Available from: http://www.scholaruniverse.com/ncbi-linkout?id=20980432 PubMed PMID: 20980432. doi: 10.1210/jc.2010-0782.
  59. Soni S, Whittington J, Holland AJ, Webb T, Maina E, Boer H, et al. The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment. J Intellect Disabil Res 2007;51(Pt 1):32-42. Available from: http://www.diseaseinfosearch.org/result/5912 PubMed PMID: 17181601. doi: 10.1111/j.1365-2788.2006.00895.x.
  60. Shapira NA, Lessig MC, Lewis MH, Goodman WK, Driscoll DJ. Effects of topiramate in adults with Prader-Willi syndrome. Am J Ment Retard 2004;109(4):301-309. Available from: http://www.scholaruniverse.com/ncbi-linkout?id=15176917 PubMed PMID: 15176917. doi: 10.1352/0895-8017(2004)1092.0.CO;2.
  61. Procter M, Chou LS, Tang W. Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification. Clin Chem. 2006 Jul;52(7): 1276-83. Epub 2006;52(7):1276-1283. Available from: http://www.clinchem.org/cgi/pmidlookup?view=long&pmid=16690734 PubMed PMID: 16690734. doi: 10.1373/clinchem.2006.067603.

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